Anhidrotic Ectodermal Dysplasia With Immunodeficiency
Mostrando 1-5 de 5 artigos, teses e dissertações.
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1. Primary immunodeficiencies: a diagnostic challenge?
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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2. Inborn errors of immunity associated with characteristic phenotypes
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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3. The role of nuclear factor kappa B (NF-kB) and the IL-12/23-IFN-g axis in the activation of the NADPH oxidase system. / O papel do fator nuclear kappa B (NF-kB) e do eixo IL-12/23-IFN-g na ativação do sistema NADPH oxidase.
O sistema NADPH oxidase é um complexo enzimático gerador de superóxido. O NF-kB é um fator de transcrição envolvido no controle da expressão de diversos genes ligados à resposta inflamatória. Defeitos no eixo IL-12/23-IFN-g resultam em infecções recorrentes e à susceptibilidade mendeliana a micobacterioses, podendo diminuir a expressão do compon
Publicado em: 2009
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4. O papel do fator nuclear Kappa B (NF-k B) na expressão do gene CYBB do sistema NADPH oxidase humano / The role of nuclear factor k-B (NF-kB) CYBB gene expression activity of the human NADPH oxidase system
This work investigated the functional role of nuclear factor-? B (NF-?B) in respiratory burst activity and in expression of the human phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase gene CYBB. U937 cells with a stably transfected repressor of NF-?B (I-?Ba-S32A/ S36A) demonstrated significantly lower superoxide release and lower CYBB gen
Publicado em: 2008
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5. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKγ, the regulatory subunit of the IκB kinase (IKK) complex. IKK normally phosphorylates the IκB-inhibitors of NF-κB at specific serine res
American Society for Clinical Investigation.